Behavior problems and health-related quality of life in Dravet syndrome

Sinoo, Claudia; Lange, Iris Marie Louise de; Westers, Paul; Gunning, W. Boudewijn; Jongmans, Marian J.; Brilstra, Eva H.

doi:10.1016/j.yebeh.2018.11.029

Cited by 46 publications

(69 citation statements)

References 69 publications

(107 reference statements)

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“…It is acknowledged that, in addition to seizures, many other clinical problems—including cognitive impairment, behavioral disorders, and a number of comorbidities—characterize the disease course. Recent studies have underscored that these comorbidities are the most disabling symptoms in long‐term outcome . The analysis of our series confirms that ID and behavioral disorders with the ensuing impairment of adaptive functioning causes a remarkable burden for the families.…”

Section: Discussionsupporting

confidence: 77%

“…Literature data report persistent seizures, language impairment, and ID in the majority of adolescents and adults . The neuropsychological decline usually appears evident in the second/third year of life, and becomes more pronounced in adolescence.…”

Section: Introductionmentioning

confidence: 99%

“…The neuropsychological decline usually appears evident in the second/third year of life, and becomes more pronounced in adolescence. Cognitive disabilities and behavioral disturbances are among the most important negative prognostic factors of quality of life in adults . Disabling motor disorders are also frequently reported both in adolescents and adults, and the presence of a parkinsonian component has been recently outlined …”

Section: Introductionmentioning

confidence: 99%

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Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

et al. 2019

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To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course.At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents and in 80% of adults, but epilepsy severity progressively decreased through age.Seizure persistence correlated with the complete phenotype and with the occurrence of reflex seizures. At last evaluation, ID was moderate or severe in 70.5% of adolescents and in 80% of adults. The most severe cognitive and motor impairment was observed in patients with persisting seizures. The severity of cognition, language, and neurologic impairment at last evaluation correlated statistically with the complete phenotype. The study confirms that the global outcome of DS is poor in most cases, albeit epilepsy severity decreases throughout adulthood. The improvement of epilepsy throughout ages is not associated with improvement in intellectual abilities and motor skills; this confirms that the unfavorable outcome is not a pure consequence of epilepsy. K E Y W O R D Sadolescents and adults, complete Dravet syndrome, developmental and epileptic encephalopathy, longterm outcome, myoclonic phenotype, reflex seizures S50 | DARRA et Al.

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Section: Discussionsupporting

confidence: 77%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

et al. 2019

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“…We report similar needs of treatment aiming to improve behavioral, sleep, communication and interaction disorders, daily activity, motor skills and language di culties might emphasize the importance of these issues regardless of age. Indeed, communication problems, behavioral and motor impairments are present in affected individuals with Dravet syndrome since pre-school age and the proportion of affected individuals with these comorbidities remain relatively stable across the different age group [14,15,42].…”

Section: Discussionmentioning

confidence: 99%

“…Several additional features are frequently reported: eating and sleep disorders, gait deterioration, dysautonomia, and a higher predisposition to infections [9][10][11]. The long-term outcome of individuals with Dravet syndrome remains poor [12][13][14][15]. This syndrome is considered as the archetype of developmental and epileptic encephalopathy (DEE) [16].…”

Section: Introductionmentioning

confidence: 99%

Families driven drug development and clinical trials: a pilot study in Dravet Syndrome to delineate what really matters

Teng

Barco

Marie³

et al. 2021

Preprint

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Background Dravet syndrome (DS) is a developmental and epileptic encephalopathy. Patients rapidly develop drug resistant seizures but patients with DS develop non-seizures disorders that are often age related. We aimed to identify the caregivers’ opinion on the outcome measures that matters in clinical trials in individuals with DS and their correlation with the age of the individual with DS. Methods We conducted a prospective international study with convenience sample based on a 11-closed questions survey developed with three European patients’ advocacy groups (PAG) for DS (France, Italy and Germany). The items were about seizures and daily life outcomes that a clinical trial should target according to family opinion. Items were scored from 1 (not important at all) to 5 (highly important). Statistical analyses were performed to evaluate country (ANOVA and khi2 tests) and age effect (Spearman's ρ). Results Hundred and fifty-three caregivers answered the survey (68%: France, 28%: Germany and 24%: Italy; affected individuals’ characteristics: 86 males, age: 11.4 [25th -75th percentile:7-20.4] years). Demographic characteristics were not significantly different between countries. Families ranked as important almost all the items proposed. However, most of the items related to daily life had the highest rank in all 3 countries compared to items about seizures (p = 0.02). Positive correlation between age and age at diagnosis (ρ = 0.26, p = 0.02) and negative correlations between age and targeting seizure duration and between age (ρ =-0.25, p = 0.005) and targeting the need of referral to hospital (ρ =-0.26, p = 0.005) were identified. Conclusions This study emphasized the DS families’ expectations from therapies beyond seizure efficacy. These data can help to adapt patients-centered outcome measures in future clinical and real-life trials in DS.

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Functional communication training and delay to reinforcement for the treatment of elopement in a boy with Dravet syndrome

Vascelli

Iacomini²,

Berardo³

2021

Behavioral Interventions

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This study used a functional communication training procedure with delay to reinforcement to increase communication and decrease elopement of a 14-year-old boy with Dravet syndrome. The initial functional analysis showed that elopement was maintained by access to tangibles and avoidance of requests. The experimental design used was multiple probes across settings experimental design. The results indicated that the communication level increased, and elopement decreased during sessions conducted in the rehabilitation center and the home environment. Implications for practice are discussed. K E Y W O R D S communication, delay to reinforcement, Dravet syndrome, elopement, FCT 1 | INTRODUCTION Dravet syndrome (DS) is a rare form of infantile-onset epilepsy characterized by frequent, prolonged seizures accompanied by psychomotor and neurological impairments (Dravet, 2011). It affects between 1/20,000 and 1/40,000 of persons. Children with DS begin to show a psychomotor decline in the second year of life, which then arrests around 6 years resulting in a moderate or severe intellectual disability (Ceulemans, 2011). Most patients develop language planning difficulties, dysarthria, and expressive language deficits that cause significant communication difficulties. When growing up, adolescents with DS may have difficulties walking and need equipment to support mobility (Knupp et al., 2017). The syndrome also dramatically affects children's behavior (Sinoo et al., 2019), who nearly inevitably develop behavior problems. The most frequent behavior problems in children with DS are attention deficits, hyperactivity (Ragona et al., 2010), and autistic-like characteristics. Children are reported to be noncompliant with adult requests; they are restless and do not seem to be interested and participate in activities typical of their peers (Sinoo et al., 2019). Other behavior problems include opposition, irritability, and

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Behavior problems and health-related quality of life in Dravet syndrome

Cited by 46 publications

References 69 publications

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

Families driven drug development and clinical trials: a pilot study in Dravet Syndrome to delineate what really matters

Functional communication training and delay to reinforcement for the treatment of elopement in a boy with Dravet syndrome

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